Evidence map›Paper›PMID 42168203›Full record

ArticleNature communications2026

Distinct genomic and immunologic tumor evolution in germline TP53-driven breast cancers.

Nabamita Boruah, David Hoyos, Renyta Moses, Ryan Hausler, Heena Desai, Anh N Le, Madeline Good, Gregory Kelly, Ashvathi Raghavakaimal, Maliha Tayeb and 12 more

Abstract read
In one paragraph

Article in Nature communications, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Gastric epithelium frombioRxiv : the preprint server for biology · 2025
    Article
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors.

Nabamita Boruah *Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
David Hoyos *Computational Oncology, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Renyta MosesDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ryan HauslerDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Heena DesaiDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Anh N LeDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Madeline GoodDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0009-0002-8078-808X
Gregory KellyDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Ashvathi RaghavakaimalDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Maliha TayebDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Mohana NarasimhamurthyDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Abigail DoucetteAbramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Peter GabrielAbramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-3772-9669
Michael J FeldmanDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jinae ParkDepartments of Medicine and Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0009-0001-7132-290X
Miguel Lopez de RodasDepartment of Pathology, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0002-6062-4064
Kurt A SchalperDepartment of Pathology, Yale School of Medicine, New Haven, CT, USA.ORCID http://orcid.org/0000-0001-5692-4833
Shari B GoldfarbDepartments of Medicine and Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Anupma NayakDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Arnold J LevineInstitute for Advanced Study, Princeton, NJ, USA.ORCID http://orcid.org/0000-0002-1871-6387
Benjamin D GreenbaumComputational Oncology, Department of Epidemiology & Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-6153-8793
Kara N MaxwellDivision of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. kara.maxwell@pennmedicine.upenn.edu.ORCID http://orcid.org/0000-0001-8192-4202

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4M
UNIVERSITY OF PENNSYLVANIA CAN CTR SUPPORT GRANTP30CA016520 · NCI · UNIVERSITY OF PENNSYLVANIA · PI Robert H. Vonderheide · 1985 to 2026
$222.3M
A genotype-phenotype study of tumors from patients with inherited mutations in DNA repair genesK08CA215312 · NCI · UNIVERSITY OF PENNSYLVANIA · PI MAXWELL, KARA N · 2018 to 2022
$924k
Burroughs Wellcome Fund (BWF) 1017184NCI NIH HHS K08 CA215312NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016520U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI) K08CA215312
6 · The paper itself

Abstract

Pathogenic germline TP53 alterations cause Li-Fraumeni Syndrome (LFS), and breast cancer (BC) is the most common cancer in LFS females. Here, we perform a multimodal analysis, comparing LFS-BC with sporadic premenopausal breast cancer which shows that nearly all LFS-BC undergo biallelic loss of TP53, with no recurrent oncogenic variants except ERBB2 (HER2) amplification. Compared to sporadic BC, in situ and invasive LFS-BC exhibit a high burden of short amplified aneuploid segments. Pro-apoptotic p53 target genes BAX and TP53I3 fail to be up-regulated in LFS-BC unlike in sporadic BC compared to normal breast tissue. LFS-BC has lower CD8 + T-cell infiltration compared to sporadic BC yet higher levels of proliferating cytotoxic T-cells. Within LFS-BC, progression from in situ to invasive BC is marked by an increase in chromosomal instability with a decrease in proliferating cytotoxic T-cells. Our study uncovers critical events in mutant p53-driven tumorigenesis in breast tissue.

Indexed as

Breast NeoplasmsGerm-Line MutationLi-Fraumeni SyndromeTumor Suppressor Protein p53CD8-Positive T-LymphocytesChromosomal InstabilityErb-b2 Receptor Tyrosine KinasesFemaleGene Expression Regulation, NeoplasticGenomicsHumansT-Lymphocytes, CytotoxicErb-b2 Receptor Tyrosine KinasesTP53 protein, humanTumor Suppressor Protein p53

Identifiers

PMID42168203
PMCPMC13402668

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.